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LUPSKI, JAMES

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Item Type	Name
Academic Article	Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon.
Academic Article	Plasmids for the selection and analysis of prokaryotic promoters.
Academic Article	Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase.
Academic Article	Comparison of left-end DNA sequences of bacteriophages Mu and D108.
Academic Article	Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon.
Academic Article	In vitro stimulation of Escherichia coli RNA polymerase sigma subunit synthesis by NusA protein.
Academic Article	Specificity of Tn5 insertions into a 36-bp DNA sequence repeated in tandem seven times.
Academic Article	Localization of a Plasmodium surface antigen epitope by Tn5 mutagenesis mapping of a recombinant cDNA clone.
Academic Article	Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12.
Academic Article	Cloning and characterization of the Escherichia coli chromosomal region surrounding the dnaG Gene, with a correlated physical and genetic map of dnaG generated via transposon Tn5 mutagenesis.
Academic Article	The rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli.
Academic Article	Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques.
Academic Article	DNA fingerprinting of pathogenic bacteria by fluorophore-enhanced repetitive sequence-based polymerase chain reaction.
Academic Article	Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12.
Academic Article	In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markers.
Academic Article	The use of transposon Tn5 mutagenesis in the rapid generation of correlated physical and genetic maps of DNA segments cloned into multicopy plasmids--a review.
Academic Article	Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
Academic Article	Settling the myelin protein zero question in CMT1B.
Academic Article	A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
Academic Article	Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes.
Academic Article	Molecular fingerprinting of Legionella species by repetitive element PCR.
Academic Article	DNA-based identification and epidemiologic typing of bacterial pathogens.
Academic Article	Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Academic Article	Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.
Academic Article	Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1.
Academic Article	Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP.
Academic Article	Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria.
Academic Article	Molecular epidemiology and its clinical application.
Academic Article	Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations.
Academic Article	Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR.
Academic Article	Vertical transmission of Citrobacter diversus documented by DNA fingerprinting.
Academic Article	Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria.
Academic Article	Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
Academic Article	Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB.
Academic Article	Functional analysis of mutations in the transcription terminator T1 that suppress two dnaG alleles in Escherichia coli.
Academic Article	Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
Academic Article	Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters.
Academic Article	Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles.
Academic Article	Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
Academic Article	Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.
Academic Article	Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene.
Academic Article	Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.
Academic Article	Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
Academic Article	Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
Academic Article	The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs.
Academic Article	DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
Academic Article	A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).
Academic Article	Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates.
Academic Article	The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.
Academic Article	Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2.
Academic Article	Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
Academic Article	Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Academic Article	Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
Academic Article	A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Academic Article	An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.
Academic Article	SERE, a widely dispersed bacterial repetitive DNA element.
Academic Article	Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Academic Article	Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Academic Article	Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.
Academic Article	Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Academic Article	A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
Academic Article	Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Academic Article	Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
Academic Article	Localization of mariner DNA transposons in the human genome by PRINS.
Academic Article	Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
Academic Article	Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype.
Academic Article	Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Academic Article	The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.
Academic Article	Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
Academic Article	Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Academic Article	Identification of novel genes expressed during metanephric induction through single-cell library screening.
Academic Article	Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Academic Article	Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Academic Article	Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Academic Article	Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites.
Academic Article	DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Academic Article	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Academic Article	Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
Academic Article	MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
Academic Article	Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.
Academic Article	Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.
Academic Article	SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Academic Article	Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Academic Article	Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes.
Academic Article	Microbial DNA typing by automated repetitive-sequence-based PCR.
Academic Article	Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.
Academic Article	Short, interspersed repetitive DNA sequences in prokaryotic genomes.
Academic Article	Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Academic Article	Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Academic Article	Molecular characterization of a patient with del(1)(q23-q25).
Academic Article	Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.
Academic Article	Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.
Academic Article	Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
Academic Article	Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p.
Academic Article	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Academic Article	RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins.
Academic Article	Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
Academic Article	An ABCA4 genomic deletion in patients with Stargardt disease.
Academic Article	Triallelic inheritance: a bridge between Mendelian and multifactorial traits.
Academic Article	A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Academic Article	The complete genome of an individual by massively parallel DNA sequencing.
Academic Article	Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
Academic Article	Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Academic Article	Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation.
Academic Article	Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction.
Academic Article	A microhomology-mediated break-induced replication model for the origin of human copy number variation.
Academic Article	Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
Academic Article	Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Academic Article	Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas.
Academic Article	Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Academic Article	Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia.
Academic Article	Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL.
Academic Article	A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
Academic Article	Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
Academic Article	Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
Academic Article	Evolution of ABCA4 proteins in vertebrates.
Academic Article	Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1.
Academic Article	Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Academic Article	What have studies of genomic disorders taught us about our genome?
Academic Article	Genome structural variation and sporadic disease traits.
Academic Article	Mechanisms for recurrent and complex human genomic rearrangements.
Academic Article	RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
Academic Article	A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
Academic Article	A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Academic Article	Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Academic Article	Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.
Academic Article	Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Academic Article	Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
Academic Article	Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
Academic Article	Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Academic Article	Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor.
Academic Article	Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.
Academic Article	Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain.
Academic Article	Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia.
Academic Article	SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway.
Academic Article	Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Academic Article	Population bottlenecks as a potential major shaping force of human genome architecture.
Academic Article	Copy number variation at the breakpoint region of isochromosome 17q.
Academic Article	Mutation survey of known LCA genes and loci in the Saudi Arabian population.
Academic Article	The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Academic Article	Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Academic Article	Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Academic Article	Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.
Academic Article	Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Academic Article	Copy number variation in human health, disease, and evolution.
Academic Article	Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article	Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
Academic Article	Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Academic Article	A temperature-dependent pBR322 copy number mutant resulting from a Tn5 position effect.
Academic Article	Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Academic Article	Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Academic Article	Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Academic Article	The phenotype of recurrent 10q22q23 deletions and duplications.
Academic Article	Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.
Academic Article	Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
Academic Article	Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Academic Article	Brain copy number variants and neuropsychiatric traits.
Academic Article	Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
Academic Article	Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
Academic Article	DNA----DNA, and DNA----RNA----protein: orchestration by a single complex operon.
Academic Article	NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation.
Academic Article	Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.
Academic Article	Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
Academic Article	Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.
Academic Article	Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Academic Article	Molecular mechanisms for transposition of drug-resistance genes and other movable genetic elements.
Academic Article	Structure and organization of genes for sporozoite surface antigens.
Academic Article	Sequences of the Escherichia coli dnaG primase gene and regulation of its expression.
Academic Article	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Academic Article	DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies.
Academic Article	A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Academic Article	Charcot-Marie-Tooth disease: lessons in genetic mechanisms.
Academic Article	Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli.
Academic Article	Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction.
Academic Article	Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Academic Article	Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Academic Article	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Academic Article	Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Academic Article	Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Academic Article	Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
Academic Article	Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
Academic Article	Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
Academic Article	Serial segmental duplications during primate evolution result in complex human genome architecture.
Academic Article	Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1).
Academic Article	Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Academic Article	Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Academic Article	DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Academic Article	Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251].
Academic Article	Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning.
Academic Article	Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Academic Article	Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).
Academic Article	Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.
Academic Article	Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article	Personal genome research : what should the participant be told?
Academic Article	Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
Academic Article	Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
Academic Article	Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Academic Article	Olfactory copy number association with age at onset of Alzheimer disease.
Academic Article	Whole-genome sequencing for optimized patient management.
Academic Article	Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
Academic Article	A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
Academic Article	Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article	DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Academic Article	Generation of the Sotos syndrome deletion in mice.
Academic Article	Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Academic Article	Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
Concept	DNA, Viral
Concept	DNA, Bacterial
Concept	DNA, Recombinant
Concept	DNA Methylation
Concept	Sequence Analysis, DNA
Concept	DNA-Binding Proteins
Concept	DNA
Concept	DNA Ligases
Concept	DNA Damage
Concept	DNA-Directed DNA Polymerase
Concept	DNA Probes
Concept	DNA Helicases
Concept	DNA Replication Timing
Concept	DNA Topoisomerases, Type I
Concept	DNA, Complementary
Concept	DNA, Mitochondrial
Concept	DNA Copy Number Variations
Concept	DNA Breaks, Double-Stranded
Concept	DNA Replication
Concept	DNA Restriction Enzymes
Concept	DNA Primers
Concept	DNA Breaks, Single-Stranded
Concept	DNA-Directed RNA Polymerases
Concept	DNA Breaks
Concept	DNA Repair
Concept	DNA, Antisense
Concept	DNA, Single-Stranded
Concept	DNA Transposable Elements
Concept	DNA Fingerprinting
Concept	DNA Mutational Analysis
Concept	DNA Primase
Academic Article	NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article	Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Academic Article	TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Academic Article	ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.
Academic Article	Detection of clinically relevant copy number variants with whole-exome sequencing.
Academic Article	Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional.
Academic Article	Replicative mechanisms for CNV formation are error prone.
Academic Article	Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article	CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Academic Article	Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Academic Article	Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
Academic Article	NR2F1 mutations cause optic atrophy with intellectual disability.
Academic Article	Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Academic Article	High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
Academic Article	Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication.
Academic Article	Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Academic Article	Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
Academic Article	De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Academic Article	Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Academic Article	Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Academic Article	The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Academic Article	Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Academic Article	Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Academic Article	Passage number is a major contributor to genomic structural variations in mouse iPSCs.
Academic Article	Germ-line and somatic DICER1 mutations in pineoblastoma.
Academic Article	Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Academic Article	Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Academic Article	Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.
Academic Article	Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
Academic Article	Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Academic Article	Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Academic Article	Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article	Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Academic Article	New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Academic Article	CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.
Academic Article	TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Academic Article	FBN1 contributing to familial congenital diaphragmatic hernia.
Academic Article	Absence of heterozygosity due to template switching during replicative rearrangements.
Academic Article	DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Academic Article	Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Academic Article	Cognitive phenotypes and genomic copy number variations.
Academic Article	Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Academic Article	Assessing structural variation in a personal genome-towards a human reference diploid genome.
Academic Article	Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article	Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?).
Academic Article	Non-coding genetic variants in human disease.
Academic Article	DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Academic Article	Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.
Academic Article	Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
Academic Article	Whole-Exome Sequencing in Familial Parkinson Disease.
Academic Article	POGZ truncating alleles cause syndromic intellectual disability.
Academic Article	The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article	DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Academic Article	Clinical genomics: from a truly personal genome viewpoint.
Academic Article	Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article	Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Academic Article	Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Academic Article	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Academic Article	Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Academic Article	Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Academic Article	Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Academic Article	Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Academic Article	Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Academic Article	Mechanisms for Complex Chromosomal Insertions.
Academic Article	Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Academic Article	Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Academic Article	Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article	Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Academic Article	Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Academic Article	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Academic Article	An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article	Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
Academic Article	Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.
Academic Article	Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article	Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
Academic Article	Genomic disorders 20 years on-mechanisms for clinical manifestations.
Academic Article	SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads.
Academic Article	The phenotypic spectrum of Xia-Gibbs syndrome.
Academic Article	Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Academic Article	The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Academic Article	Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Grant	CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
Grant	Chromosome Rearrangements and Mental Retardation
Academic Article	Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Academic Article	Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Academic Article	A large CRISPR-induced bystander mutation causes immune dysregulation.
Academic Article	Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
Academic Article	Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Academic Article	Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Concept	DNA Ligase ATP
Concept	DNA End-Joining Repair
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Academic Article	Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.
Academic Article	Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Academic Article	TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Academic Article	Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
Academic Article	A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article	Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Academic Article	Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Academic Article	Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Academic Article	Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.
Academic Article	Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Academic Article	Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Academic Article	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article	Human NK cell deficiency as a result of biallelic mutations in MCM10.
Academic Article	Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Academic Article	Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Academic Article	Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
Academic Article	Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Academic Article	Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Academic Article	A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Academic Article	Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Academic Article	Risk of sudden cardiac death in EXOSC5-related disease.
Academic Article	Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Academic Article	Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Academic Article	An ELF4 hypomorphic variant results in NK cell deficiency.
Academic Article	Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
Academic Article	The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Academic Article	Excess folic acid intake increases DNA de novo point mutations.
Academic Article	Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Academic Article	SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Academic Article	Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Academic Article	HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Academic Article	Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.

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